Canonical Allele Identifier: CA1501207388

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655304T= , CM000666.2:g.145655304T=	GRCh38
NC_000004.11:g.146576456T= , CM000666.1:g.146576456T=	GRCh37
NC_000004.10:g.146795906T=	NCBI36
NG_007536.1:g.41007T=
NG_007536.2:g.61263T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1127T=	ENSP00000442284.3:p.Leu376=
ENST00000647947.1:c.*911T=	ENSP00000496781.1:n.*911T=
ENST00000648388.1:c.1127T=	ENSP00000497046.1:p.Leu376=
ENST00000649156.2:c.1127T= MANE Select	ENSP00000497008.1:p.Leu376=
ENST00000649173.1:c.1061T=	ENSP00000497871.1:p.Leu354=
ENST00000649704.1:c.1127T=	ENSP00000497680.1:p.Leu376=
ENST00000679563.1:c.1127T=	ENSP00000506503.1:p.Leu376=
ENST00000679930.1:c.*646T=	ENSP00000506293.1:n.*646T=
ENST00000281317.9:c.1127T=	ENSP00000281317.5:p.Leu376=
ENST00000503730.1:n.537T=
ENST00000511969.4:c.*258T=	ENSP00000427422.1:n.*258T=
ENST00000541599.4:c.1127T=	ENSP00000442284.2:p.Leu376=
NM_172250.2:c.1127T=	NP_758454.1:p.Leu376=
XM_011531684.1:c.1127T=	XP_011529986.1:p.Leu376=
XM_011531685.1:c.1127T=	XP_011529987.1:p.Leu376=
XM_011531686.1:c.632T=	XP_011529988.1:p.Leu211=
NM_172250.3:c.1127T= MANE Select	NP_758454.1:p.Leu376=
XM_011531684.3:c.1127T=	XP_011529986.1:p.Leu376=
XM_011531685.2:c.1127T=	XP_011529987.1:p.Leu376=
XM_011531686.2:c.632T=	XP_011529988.1:p.Leu211=
NM_001375644.1:c.1127T=	NP_001362573.1:p.Leu376=